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Wilson Disease

Wilson disease is a rare disease that causes the mineral copper to build up in your body. Copper is one of the many minerals you need from the foods you eat. It helps your body work as it should. But too much copper can be harmful.

Normally, your liver sends any extra copper out of your body in bile. Bile is the digestive juice that your liver makes. Wilson disease keeps your liver from working as it should. Instead of getting rid of the copper, your liver starts storing it. Over time, so much copper builds up that your liver can’t hold anymore. The extra copper goes into your bloodstream. It collects in other organs like your eyes and brain.

This buildup of copper begins when you're born. But it can take years or even decades for symptoms to show up.

Who is likely to get Wilson disease?

Wilson disease is an inherited disease. It’s caused by a defect (mutation) in a certain gene called ATP7B. Both of your parents need to have the mutation of the ATP7B gene for it to affect you. If only one parent has it, you may inherit the gene. But you won’t develop the disease. Wilson disease affects both men and women equally.

What are the signs and symptoms of Wilson disease?

The symptoms of Wilson disease depend on which organs are affected. It can affect the liver, the central nervous system, and the eyes. These symptoms can also be caused by many other conditions or diseases. So it’s important that you see your health care provider for a diagnosis.

Symptoms can appear at any time in life. But they usually start between ages 5 and 35. Liver symptoms usually show up in late childhood or in the teen years. Nerve symptoms usually appear in adulthood.

One common symptom is rusty brown rings around the iris of your eye. These are called Kayser-Fleischer rings. About half of the people with Wilson disease have these rings. The rings are made of copper, but they don’t affect your vision.

Liver symptoms include:

  • Fatigue

  • Swelling in your belly (abdomen) or legs

  • Yellowish skin or whites of eyes (jaundice)

  • Skin that bruises easily

Nerve symptoms include:

  • Changes in behavior

  • Stiff muscles

  • Tremors, shakes, or motions you can’t control

  • Slow or repetitive movements

  • Loss of muscle tone

  • Difficulty swallowing

  • Slurred speech

  • Poor coordination

  • Drooling

  • Psychological changes, such as suicidal thoughts

Signs of Wilson disease are:

  • Early changes in bone density or joints

  • Anemia

  • Lower-than-normal levels of platelets or white blood cells

How is Wilson disease diagnosed?

Your health care provider will ask you questions about your medical and family history. He or she will give you a physical exam. Your provider will also look at your symptoms.

He or she may also order:

  • Blood and urine tests

  • Liver biopsy

  • Genetic testing

How is Wilson disease treated?

Wilson disease has no cure. You will need treatment for the rest of your life. Treatment removes the extra copper from your body. It also stops copper from collecting in your organs and tissues.

You may need to:

  • Take copper-chelating medicines. These help your body’s organs and tissues get rid of extra copper.

  • Cut back on the amount of copper you get through food.

  • Take zinc supplements. Zinc stops your body from absorbing copper from the food you eat.

  • Get extra vitamin B6.

  • Take medicines to treat symptoms, such as tremors and muscle stiffness.

  • Get a liver transplant, if you have a lot of liver damage.

If treatment is started before your organs are damaged, you can reduce symptoms and prevent serious complications.

What are the complications of Wilson disease?

People who have Wilson disease that is not diagnosed and treated can have serious complications.

Wilson disease can lead to liver problems. These include:

  • Hepatitis

  • Scarring of the liver (cirrhosis)

  • Liver failure

  • Liver cancer

You can also have kidney damage. You could have problems completing daily tasks because of nerve and brain symptoms. Brain damage is a possibility. Wilson disease can be fatal if not treated.

Can I prevent Wilson disease?

Wilson disease has no cure. If you have Wilson disease, talk with a genetic counselor to help figure out if your children are at risk for it. Your health care provider may recommend genetic testing. Your siblings should be tested. So should other family members who have nerve or liver symptoms that could be related to Wilson disease.


When to call the health care provider

Call your doctor if you have:

  • Psychological symptoms that get worse, such as thoughts of suicide

Also call your doctor if you have symptoms of possible liver failure:

  • You feel sleepier than normal

  • You feel confused or disoriented


Tips for living with Wilson disease


You may need to make changes to your diet. These changes include:

  • Avoiding shellfish

  • Avoiding liver

  • Limiting or avoiding mushrooms

  • Limiting or avoiding nuts

  • Limiting or avoiding chocolate

  • Avoiding multivitamins that contain copper 

You should test your drinking water for copper, or find a source of water that is free of copper.

It's also important to have regular follow-up visits with your health care provider. You’ll also need lab tests to make sure your copper levels are under control.

If you want to get pregnant, or are pregnant, tell your doctor. You may need to change your medication dosages, so you can have a healthy pregnancy.

Also, talk with your doctor about other steps you can take to keep your liver healthy. These include getting vaccinated against hepatitis A and B.

Wilson Disease - WellSpan Health

Author: Vann, Madeline
Online Medical Reviewer: Clark, Heather, MS, CGC
Online Medical Reviewer: Godsey, Cynthia, MSN, APRN, MSHE, FNP-BC
Online Medical Reviewer: newMentor board-certified, academically affiliated clinician
Last Review Date: 2014-08-25T00:00:00
Last Modified Date: 2014-08-25T00:00:00
Published Date: 2015-08-31T00:00:00
Last Review Date: 2013-01-11T00:00:00
© 2015 WellSpan Health. All Rights Reserved. This information is not intended as a substitute for professional medical care. Always follow your healthcare professional's instructions.

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